Mutagenetix > Incidental Mutation

Incidental Mutation 'D3080:Pfpl'

133

Institutional Source

Beutler Lab

Gene Symbol

Pfpl

Ensembl Gene

ENSMUSG00000040065

Gene Name

pore forming protein-like

Synonyms

Epcs5, Epcs50

Accession Numbers

Genbank: NM_019540; MGI: 1860266

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

D3080 of strain grasshopper

Quality Score

Status

Validated

Chromosome

Chromosomal Location

12427905-12432110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12428832 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Arginine to Glutamine at position 149 (R149Q)

Ref Sequence

ENSEMBL: ENSMUSP00000126346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168148]

AlphaFold

Q5RKV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000168148
AA Change: R149Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126346
Gene: ENSMUSG00000040065
AA Change: R149Q

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
MACPF	144	343	6.26e-33	SMART
transmembrane domain	643	665	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 88.9%
3x: 76.7%

Validation Efficiency

82% (141/173)

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	A	5: 87,971,987 (GRCm38)	P201Q	possibly damaging	Het
Bdp1	A	T	13: 100,023,621 (GRCm38)	S2417R	probably benign	Het
Dscaml1	A	T	9: 45,684,325 (GRCm38)	H783L	probably benign	Het
Fbxl5	A	T	5: 43,758,366 (GRCm38)	M568K	probably benign	Het
Gab1	T	A	8: 80,766,378 (GRCm38)	D710V	probably damaging	Homo
Gabrr2	T	C	4: 33,084,466 (GRCm38)	F128S	probably damaging	Het
Gm8251	C	A	1: 44,067,335 (GRCm38)			Het
Hyou1	T	A	9: 44,384,477 (GRCm38)	V343E	probably damaging	Het
Nlrp4a	A	G	7: 26,444,341 (GRCm38)	T44A	probably benign	Het
Nsd3	C	A	8: 25,713,545 (GRCm38)	T1362N	possibly damaging	Homo
Olfr523	G	A	7: 140,176,362 (GRCm38)	V81M	possibly damaging	Het
Pcm1	T	A	8: 41,275,939 (GRCm38)	N649K	probably damaging	Homo
Pde4dip	T	C	3: 97,766,830 (GRCm38)	K257E	probably damaging	Het
Pou2f2	G	T	7: 25,097,133 (GRCm38)		probably benign	Het
Rptn	A	G	3: 93,395,828 (GRCm38)	D156G	possibly damaging	Het
Sec31a	T	C	5: 100,363,832 (GRCm38)	D1107G	probably damaging	Het
Smyd3	A	G	1: 179,086,422 (GRCm38)	Y239H	probably damaging	Het
Stoml3	T	C	3: 53,497,994 (GRCm38)	F32S	probably benign	Het
Tnnc1	C	A	14: 31,210,190 (GRCm38)	D62E	probably damaging	Homo
Vsig10	C	T	5: 117,343,819 (GRCm38)	A358V	probably damaging	Het

Other mutations in Pfpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Pfpl	APN	19	12,429,645 (GRCm38)	missense	probably benign	0.00
IGL01298:Pfpl	APN	19	12,428,673 (GRCm38)	missense	possibly damaging	0.68
IGL01310:Pfpl	APN	19	12,428,610 (GRCm38)	missense	probably damaging	1.00
IGL02273:Pfpl	APN	19	12,429,963 (GRCm38)	missense	possibly damaging	0.96
IGL02532:Pfpl	APN	19	12,428,845 (GRCm38)	missense	probably damaging	1.00
IGL02611:Pfpl	APN	19	12,430,283 (GRCm38)	missense	probably benign
IGL02642:Pfpl	APN	19	12,429,743 (GRCm38)	missense	probably damaging	1.00
IGL02715:Pfpl	APN	19	12,429,781 (GRCm38)	nonsense	probably null
IGL03087:Pfpl	APN	19	12,428,877 (GRCm38)	missense	probably benign	0.06
IGL03223:Pfpl	APN	19	12,430,074 (GRCm38)	missense	probably damaging	1.00
IGL03253:Pfpl	APN	19	12,430,029 (GRCm38)	missense	probably damaging	0.99
pegged	UTSW	19	12,429,010 (GRCm38)	missense	probably damaging	1.00
R0276:Pfpl	UTSW	19	12,429,237 (GRCm38)	missense	probably damaging	1.00
R0433:Pfpl	UTSW	19	12,429,475 (GRCm38)	missense	probably damaging	1.00
R1004:Pfpl	UTSW	19	12,430,425 (GRCm38)	missense	probably benign	0.00
R1510:Pfpl	UTSW	19	12,429,696 (GRCm38)	missense	probably benign	0.31
R1759:Pfpl	UTSW	19	12,429,860 (GRCm38)	missense	probably damaging	1.00
R2009:Pfpl	UTSW	19	12,429,955 (GRCm38)	missense	possibly damaging	0.95
R2063:Pfpl	UTSW	19	12,429,873 (GRCm38)	missense	probably damaging	1.00
R2201:Pfpl	UTSW	19	12,430,479 (GRCm38)	missense	probably benign	0.01
R2656:Pfpl	UTSW	19	12,430,236 (GRCm38)	missense	probably benign
R2969:Pfpl	UTSW	19	12,429,543 (GRCm38)	missense	probably benign	0.00
R3003:Pfpl	UTSW	19	12,430,326 (GRCm38)	missense	possibly damaging	0.90
R3428:Pfpl	UTSW	19	12,430,313 (GRCm38)	missense	probably benign	0.37
R3904:Pfpl	UTSW	19	12,430,437 (GRCm38)	missense	probably benign	0.00
R4049:Pfpl	UTSW	19	12,429,689 (GRCm38)	missense	probably damaging	1.00
R4717:Pfpl	UTSW	19	12,429,254 (GRCm38)	missense	probably benign	0.07
R5343:Pfpl	UTSW	19	12,428,688 (GRCm38)	missense	probably damaging	0.99
R5804:Pfpl	UTSW	19	12,429,663 (GRCm38)	missense	probably benign	0.00
R6032:Pfpl	UTSW	19	12,429,383 (GRCm38)	missense	probably damaging	0.99
R6032:Pfpl	UTSW	19	12,429,383 (GRCm38)	missense	probably damaging	0.99
R6047:Pfpl	UTSW	19	12,429,233 (GRCm38)	missense	probably damaging	1.00
R6106:Pfpl	UTSW	19	12,429,461 (GRCm38)	missense	probably damaging	0.99
R6657:Pfpl	UTSW	19	12,429,926 (GRCm38)	missense	probably benign	0.36
R7467:Pfpl	UTSW	19	12,428,514 (GRCm38)	missense	probably damaging	1.00
R7720:Pfpl	UTSW	19	12,429,174 (GRCm38)	missense	probably benign	0.02
R8024:Pfpl	UTSW	19	12,430,206 (GRCm38)	missense	possibly damaging	0.94
R8370:Pfpl	UTSW	19	12,429,911 (GRCm38)	missense	probably damaging	0.99
R8730:Pfpl	UTSW	19	12,428,580 (GRCm38)	missense	probably damaging	1.00
R8974:Pfpl	UTSW	19	12,428,475 (GRCm38)	missense	probably damaging	1.00
R9147:Pfpl	UTSW	19	12,428,440 (GRCm38)	missense	possibly damaging	0.64
R9148:Pfpl	UTSW	19	12,428,440 (GRCm38)	missense	possibly damaging	0.64
R9248:Pfpl	UTSW	19	12,429,010 (GRCm38)	missense	probably damaging	1.00
R9283:Pfpl	UTSW	19	12,428,856 (GRCm38)	missense	probably damaging	1.00
R9542:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9560:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9561:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9663:Pfpl	UTSW	19	12,430,095 (GRCm38)	missense	probably damaging	1.00
R9670:Pfpl	UTSW	19	12,429,743 (GRCm38)	missense	probably damaging	1.00
R9721:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9722:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9723:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9759:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9761:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
R9762:Pfpl	UTSW	19	12,428,933 (GRCm38)	missense	probably damaging	1.00
Z1176:Pfpl	UTSW	19	12,429,941 (GRCm38)	nonsense	probably null

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to A transition at position 640 of the Pfpl transcript in exon 2 of 2 total exons. The mutated nucleotide causes an arginine to glutamine substitution at amino acid 149 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Pfpl gene encodes a 702 amino acid protein that is predicted to be a pore-forming protein. The membrane-attack complex (MAC) of the complement system forms transmembrane channels. These channels disrupt the phospholipid bilayer of target cells, leading to cell lysis and death (SMART).

The R149Q change is predicted to be probably benign by the PolyPhen program.

Posted On

2010-03-12